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Vitamin-Responsive Inherited Metabolic Disorders

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Advances in Human Genetics 6

Abstract

We now recognize 25 different metabolic disorders which meet the three essential criteria for inclusion in this review: a genetic etiology, a characteristic clinical or biochemical aberration, and an unequivocal biochemical and/or clinical response to a supraphysiological amount or an extraphysiological route of administration of a single vitamin. Most of these vitamin-responsive or, as they have often been called, “vitamin-dependent” conditions have been described in the past decade. Yet their discovery can be traced to the logical interaction of two older scientific disciplines which date back to the early years of this century. One, human biochemical genetics, stems from Archibald Garrod’s descriptions of four “inborn errors of metabolism.”39 The other, concerned with the structure and function of vitamins, was founded by Frederick G. Hopkins105 during his investigations of “accessory food substances.”

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  1. Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut, USA

    Leon E. Rosenberg

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    Harry Harris (Galton Professor of Human Genetics) (Galton Professor of Human Genetics)

  2. Mount Sinai School of Medicine, The City University of New York, USA

    Kurt Hirschhorn (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics) (Arthur J. and Nellie Z. Cohen Professor of Genetics and Pediatrics)

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Rosenberg, L.E. (1976). Vitamin-Responsive Inherited Metabolic Disorders. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 6. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8264-9_1

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